24 Feb 2025
Excited to share @medrxivpreprint describing 23 families from #100kGP & @NHSgms with suspected #Marfan syndrome and cryptic intronic #splicevariants in #FBN1 medrxiv.org/cgi/content/shor…. 70% of variants lay beyond the ±8 splice regions
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7 Oct 2024
ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants. #SpliceVariants #ClinicalVariantClassification @NatureComms
nature.com/articles/s41467-0…
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11 Sep 2024
Come over and meet Claudia de Sanctis, Ph.D @clades_86 and I at Ichan tomorrow. #spatialtranscriptomics #scRNAseq #multiomics #RNAscope #splicevariants #genetherapy #viruses #celltherapy #CDRs #lncRNA
9 Sep 2024
Join @clades_86 frm neuropathology core n I on Sept 12th to discuss projects, learn abt RNAscope incl. protease-free 6-plex assay or just say hi over the best mini carrot cakes! #CDRBSinai #mountsinaiIBD #MountSinaiNeuro #TischCancer #multiomics. Reg.@ engage.bio-techne.com/4f1ac6
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28 Aug 2024
DRS @nanopore RNA004 run on banana mRNA🍌using the latest protocol updates running nicely. #splicevariants #annotation #banana
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21 Jul 2023
Before I crashed BLASTP, I learned that while many protein seqs in NR have SYNTENY, 0 are SYNTENIC. There are many SPECIES, but no protein knows WHATISASPECIES. There are loads of GENES in proteins, but 0 SPLICEVARIANTS. Most peculiarly, 2 have NTERMINI but 0 have CTERMINI…
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23 Mar 2023
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer. #SpliceVariants #CancerGenomics @NatureComms
nature.com/articles/s41467-0…
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23 Mar 2023
@TheCoxLab and @Coon_Labs scientists succeeded in developing a new method to generate a more detailed #proteome than ever before, providing insights into how #GeneticVariants and #SpliceVariants in humans impact the proteome.
Published in @NatureBiotech
nature.com/articles/s41587-0…
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Scientist from @TheCoxLab and @Coon_Labs succeeded in developing a new method to generate the #proteome in greater detail than ever before, providing insights into how #GeneticVariants and #SpliceVariants impact the human proteome 🔬
@NatureBiotech
❕nature.com/articles/s41587-0…
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22 Mar 2023
Messaging after a while.
Returning from @n_nets ENETS meeting. I gave a talk today about splice variant-based neoantigens in neuroendocrine tumours
#PancreaticCancer #splicevariants
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6 Dec 2022
This is my favorite -always great to hear how our creative customers have utilized and expanded the applications of our assays! Do join us next Tuesday. #RNAscope #spatialtranscriptomics #scRNAseq #CRISPR #lncRNA #GeneTherapy #RNAISH #splicevariants #siRNA #miRNA
6 Dec 2022
Join us to review Key 2022 Publications utilizing #RNAscope ISH. Dr Anushka Dikshit will discuss the use of #RNAISH in areas including, neuro, oncology, I-O, cell & gene therapy, scRNAseq validation, and more.
Dec 13, 2022 | 10am PT | 1pm ET
Register: info.acdbio.com/webinar-Best…
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20 Oct 2022
@WCM_MeyerCancer @WCMSurgery @WeillCornell @WCMCPathology see you next week to learn about the many many applications of #RNAscope! #ScRNAseq #lncRNA #genetherapy #CART #celltherapy #splicevariants #miRNA #ASO #CRISPR
14 Oct 2022
Join Teresa Milner frm @WeillCornell and #RNAscope for an afternoon of in-person learning and networking on Oct 27th frm noon onwards. Registration reqd: engage.bio-techne.com/9eddd2…
@WCMCPathology @WeillCornellGS @WCMEnglanderIPM @WCMCNeurology
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19 Aug 2022
@TischCancer @MountSinaiADRC @SinaiBrain @MtSinaiPostdocs. Join us in person on Aug 31st to learn frm #RNAscope team and users abt the versatility of our assays incl. #splicevariants #miRNA #AAV #genetherapy #CART #circRNA #CRISPR #splicevariants #microenvironment #scRNA #spatial
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19 Jul 2022
Proud to share @ACDbio versatile RNAscope now has 6300 pubs!! n counting #spatialbiology #Spatialtranscriptomics #scRNAseq #CRISPR #splicevariants #ASO #miRNA #CDR #TCR #genetherapy #celltherapy #CARTcell #multiomics #lncRNA #circularRNA #xenograft #pointmutation n more!
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21 Jun 2022
Excited to present in person today at @CSHL with @beyazlab the many many applications of RNAscope assays! #spatialtranscriptomics #scRNAseq #splicevariants #CRISPR #circRNA #CART #Genetherapy #miRNA #shRNA #lncRNA #ASO #multiomics
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24 Feb 2022
23 Feb 2022
Out @Nature!
TDP-43 path induces crucial synaptic UNC13A mis-splicing and loss. ALS risk SNPs exacerbate this, worsening disease progression.
We uncover the elusive UNC13A risk SNP mechanism, suggesting patients may do better if we correct UNC13A splicing.
nature.com/articles/s41586-0…
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5 Jan 2022
A well attended event and an email made my day! Happy happy me 😃 ! #rnascope #spatial #splicevariants
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22 Oct 2021
MINTIE: identifying novel structural and splice variants in transcriptomes using RNA-seq data. #RNAseq #TranscriptsVariants #SVs #SpliceVariants
genomebiology.biomedcentral.… @GenomeBiology
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24 Feb 2021
CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores. #SpliceVariants #DeepLearning #DNNs
genomemedicine.biomedcentral… @GenomeMedicine
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2 May 2019
What We're Reading: These two papers highlight various extracellular mechanisms that take place that contribute to #PDL1 resistance in cancer. #ImmuneEscape #Exosomes #SpliceVariants bit.ly/2JavPUV
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9 Feb 2019
@GRIDD_GU I was looking through some old photos and found one that I claim is the first #experiment done in N75. @mincle student Andrew setting up #qPCR 31st Jan 2008. #splicevariants #macrophage
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